IthaID: 3631

Names and Sequences

Functionality:	Globin gene causative mutation	Pathogenicity:	N/A
Common Name:	-α3.7;CD 104 TGC>TAC	HGVS Name:	N/A
Hb Name:	Hb Sallanches	Protein Info:	N/A

Also known as:

Comments: The missense mutation HBA2:c.314G>A found in the context of a −α3.7 thalassaemia chromosome.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

Hemoglobinopathy Group:	Thalassaemia
Hemoglobinopathy Subgroup:	α-thalassaemia
Allele Phenotype:	N/A
Associated Phenotypes:	N/A

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome:	16
Locus:	NG_000006.1
Locus Location:	N/A
Size:	1 bp
Located at:	α3.7 hybrid
Specific Location:	N/A

Other details

Type of Mutation:	Point-Mutation(Substitution)
Effect on Gene/Protein Function:	N/A
Ethnic Origin:	Indian
Molecular mechanism:	N/A
Inheritance:	Recessive
DNA Sequence Determined:	Yes

In silico pathogenicity prediction

Publications / Origin

Nadkarni AH, Gorakshakar AC, Sawant PM, Italia KY, Upadhye DS, Gorivale MS, Mehta PR, Hariharan P, Ghosh K, Colah RB, The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center., Int J Lab Hematol, 41(2), 218-226, 2019

Created on 2020-09-28 11:48:37, Last reviewed on 2021-11-04 11:25:53 (Show full history)

A/A	Date	Curator(s)	Comments
1	2020-09-28 11:48:37	The IthaGenes Curation Team	Created
2	2020-09-28 11:49:10	The IthaGenes Curation Team	Reviewed.
3	2020-09-28 12:03:48	The IthaGenes Curation Team	Reviewed.
4	2020-09-28 12:05:08	The IthaGenes Curation Team	Reviewed.
5	2020-10-02 10:32:58	The IthaGenes Curation Team	Reviewed. Comment added. Location corrected.
6	2020-10-02 10:33:31	The IthaGenes Curation Team	Reviewed.
7	2021-11-04 11:25:53	The IthaGenes Curation Team	Reviewed. Common name corrected. HGVS name deleted.

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.